Version 2.76

Description

The APOL1 gene encodes apolipoprotein L1, which is a component of high density lipoprotein (HDL). Two variants of APOL1, called G1 and G2, are associated with significantly increased risk for chronic kidney diseases such as HIV-associated nephropathy, focal segmental glomerulosclerosis, and end-stage kidney disease due to hypertension. Increased risk occurs in people with sub-Saharan African ancestry that have at least one copy of G1 or G2, and the highest risk is in those with two copies of any combination of G1 and G2. African-American patients have been found to have a four-fold increased lifetime risk for end-stage kidney disease. From an evolutionary standpoint, the G1 and G2 protein isoforms, but not the wild type form, protect against Trypanosoma brucei rhodesiense infection (known as African sleeping sickness), which may have led to an increased frequency of these variants in places where Trypanosoma is more prevalent. PMID: 30417125 Kidneys from donors that have homozygous or heterozygous expression of high-risk APOL1 variants (i.e., G1/G1, G1/G2, G2/G2) have a higher risk of failure compared to those from donors who have at least one copy of wild type APOL1 (G0). Donor information about APOL1 may help inform the kidney donation and selection process. PMID: 25826538 Source: Regenstrief LOINC

Basic Part Properties

Part Display Name
APOL1 inferred genotype
Part Type
Component (Describes the core component or analyte measured)
Created On
2019-03-18
Construct for LOINC Short Name
APOL1 inferred genotype

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